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PORCN Gene

protein-coding   GIFtS: 50

GC0XP048262
porcupine homolog (Drosophila)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases &
Descriptions
for PORCN

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
2410004O13Rik 2
DHOF 2, 5
EC 2.3.1.- 3
FODH 2, 5
MG61 1, 2, 3
MGC29687 2
OTTHUMP00000025784 2
OTTHUMP00000025785 2
PORC 1, 2, 3, 5
PPN 1, 2, 3
por 1, 2
porcupine 2
Descriptions
Protein MG61 3
porcupine homolog (Drosophila) 2
External Ids
HGNC: 176521
Entrez Gene: 648402
UniProtKB: Q9H2373
Ensembl: ENSG000001023127
Search outside databases for aliases for PORCN gene

Previous GC identifers: GC0XP047414 GC0XP048123

Summaries
for PORCN

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

 EntrezGene summary for PORCN:
This gene belongs to the evolutionarily conserved porcupine (Porc) gene family. Genes of the Porc
family encode endoplasmic reticulum proteins with multiple transmembrane domains. Porcupine
proteins are involved in the processing of Wnt (wingless and int homologue) proteins. Multiple
alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided
by RefSeq]

UniProtKB/Swiss-Prot: PORCN_HUMAN, Q9H237
Function: Modulates the processing of Wnt proteins. Probable protein-cysteine
N-palmitoyltransferase that palmitoylates WNT family members

Genomic Location
for PORCN

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the PORCN gene  

Entrez Gene cytogenetic band: Xp11.23   Ensembl cytogenetic band:  Xp11.23   HGNC cytogenetic band: Xp11.23

PORCN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP048262:     (about GC identifiers)

Start:
 48,252,307 bp from pter
End:
 48,264,359 bp from pter
Size:
 12,053 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000023.9  NT_079573.3  

Proteins
for PORCN

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

 UniProtKB/Swiss-Prot: PORCN_HUMAN, Q9H237 (See protein sequence)
Recommended Name: Probable protein-cysteine N-palmitoyltransferase porcupine  
Size: 461 amino acids; 52318 Da
Subunit: Interacts with WNT1, WNT3, WNT3A, WNT4, WNT5A, WNT5B, WNT6, WNT7A and WNT7B (By
similarity)
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
Sequence caution: Sequence=AAA74510.1; Type=Miscellaneous discrepancy; Note=The sequence differs
from that shown upstream of position 63 for unknown reasons;
Secondary accessions: Q14829 Q9H234 Q9H235 Q9H236 Q9UJU7
Alternative splicing: 4 isoforms:  Q9H237-1   Q9H237-2   Q9H237-3   Q9H237-4   

REFSEQ proteins (5 alternative transcripts): 
NP_073736.2  NP_982299.1  NP_982300.1  NP_982301.1  NP_982302.1  


ENSEMBL proteins: 
ENSP00000354978 ENSP00000348233 ENSP00000352946 ENSP00000384883 ENSP00000347207 ENSP00000322304 
ENSP00000356546 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse Abcam for Recombinant Proteins
Human Recombinant Proteins from Abnova (PORCN)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005783 endoplasmic reticulum IEA--
GO:0005789 endoplasmic reticulum membrane IEA--
GO:0016020 membrane IEA--
GO:0016021 integral to membrane IEA--
About this table

Antibodies for PORCN: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
Browse R&D Systems for Antibodies
Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for PORCN

Assays for PORCN: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

Protein Domains/
Families
for PORCN

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
1 InterPro domain/family:
 IPR004299 MBOAT_fam


   GeneDecks  PORCN for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q9H237

ProtoNet protein and cluster: Q9H237

UniProtKB/Swiss-Prot: PORCN_HUMAN, Q9H237
Similarity: Belongs to the membrane-bound acyltransferase family. Porcupine subfamily

Gene Function
for PORCN

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section
Inhib.
RNA:		Invitrogen RNAi Products for gene knock-down (PORCN)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_203473

              Applied Biosystems Silencer® siRNAs for PORCN

              Sigma-Aldrich siRNA and siRNA Panels for PORCN  
                     Sigma-Aldrich shRNA for PORCN  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for PORCN
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 5): NM_022825
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): NM_022825
                                 untagged cDNA clones in CMV expression vector (see all 6): NM_022825 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_203475

UniProtKB/Swiss-Prot: PORCN_HUMAN, Q9H237
Function: Modulates the processing of Wnt proteins. Probable protein-cysteine
N-palmitoyltransferase that palmitoylates WNT family members
Enzyme Number (IUBMB): EC 2.3.1.- 

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0008415 acyltransferase activity IEA--
GO:0016740 transferase activity IEA--
About this table

Pathways & Interactions
for PORCN

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section


1 Kegg Pathway  (Kegg details for PORCN):
 hsa04310 Wnt signaling pathway

   GeneDecks  PORCN for the pathways selected above  
About GeneDecksing

5/25 Interacting proteins for PORCN (ENSP000003223043) via UniProtKB, MINT, and/or STRING (see all 25 )
InteractantInteraction Details
GeneCardExternal ID(s)
WNT1ENSP000002935493STRING (score=.962)
WNT3AENSP000003557153STRING (score=.934)
WNT4ENSP000002901673STRING (score=.934)
WNT5BENSP000003088873STRING (score=.934)
WNT7BENSP000003410323STRING (score=.934)
About this table

1 Gene Ontology (GO) biological process term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0016055 Wnt receptor signaling pathway IEA--
About this table

Drugs & Compounds
for PORCN

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for PORCN
1 Novoseek chemical compound relationship for PORCN gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
protochlorophyllide 93.30 6 14688290 (1), 18282136 (1), 15842619 (1), 18591656 (1)
About this table


Transcripts
for PORCN

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section
Inhib.
RNA:		Invitrogen RNAi Products for gene knock-down (PORCN)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_203473

              Sigma-Aldrich siRNA and siRNA Panels for PORCN  
                     Sigma-Aldrich shRNA for PORCN  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_022825  NM_203473  NM_203474  NM_203475  NM_203476  

REFSEQ mRNAs for PORCN gene (5 alternative transcripts): 

NM_022825.2   NM_203473.1   NM_203474.1   NM_203475.1   NM_203476.1   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_022825  NM_203473  NM_203474  NM_203475  NM_203476  

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 5): NM_022825
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): NM_022825
                                 untagged cDNA clones in CMV expression vector (see all 6): NM_022825 

Additional cDNA sequence: 

AF317058.1 AF317059.1 AF317060.1 AF317061.1 AK056340.1 AK057727.1 AK293347.1 AK314745.1 
AK316378.1 BC019080.2 CR623014.1 L08239.1 

9 DOTS entries:

DT.95145645  DT.100775131  DT.209337  DT.95364889  DT.95364890  DT.100643177  DT.95152129  DT.100025337 
DT.75187130 

24/77 AceView cDNA sequences (see all 77 ):

AL538245 BX280036 AL579208 BU684910 NM_203475 AK057727 BC019080 BM543485 
BU633310 NM_203473 AF317058 AI932628 AW385398 CN483202 NM_022825 BQ669093 
CD172187 AL711347 AF317060 AF317059 NM_203474 AK056340 NM_203476 AF317061 

highest scoring ESTs for PORCN:

AA010594 AA160504 AA601969 AA907337 AA928142 AF317058 AF317059 AF317060 AF317061 AI922683 

Unigene Cluster for PORCN:

Porcupine homolog (Drosophila)
Hs.386453  [show with all ESTs]
Unigene Representative Sequence: AK056340


GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for PORCN (see all 9 )

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^
SP1:                                                                                -                                         -                       -         
SP2:                                -     -                       -                                                           -                       -         
SP3:                                                                                -     -                                   -                       -         
SP4:                                -     -                       -                 -     -                                                                     
SP5:                                -     -                                         -     -                                                                     

ExUns: 14
SP1:      
SP2:      
SP3:      
SP4:      
SP5:      

About this scheme

ECgene alternative splicing isoforms for PORCN

7 Ensembl transcripts including schematic representations:
ENST00000361988  ENST00000355961  ENST00000359882  ENST00000406060  ENST00000355092  ENST00000326194  
ENST00000367574  

Expression
for PORCN

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

PORCN expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for PORCN

1 / 2 / 3

2 probe-sets matching PORCN gene


Affymetrix
probe-set		 Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

219483_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_022825 0.60 1.00 0.82 1

219483_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: CCTGTCAATC

SOURCE GeneReport for Unigene cluster: Hs.386453

UniProtKB/Swiss-Prot: PORCN_HUMAN, Q9H237
Tissue specificity: Isoform 1 is expressed in fetal brain, brain, amygdala, caudate nucleus,
cerebellum, hippocampus, pituitary, thalamus, heart, skeletal muscle and testis. Isoform 4 is
expressed in amygdala, corpus callosum, hippocampus, spinal cord, kidney, liver, lung, spleen,
uterus, testis. Isoform 2 and isoform 3 are expressed in substantia negra, spinal cord, heart and
lung

Orthologs
for PORCN

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section
Orthologs for PORCN gene from 5/8 species (see all 8 )
Organism Gene Locus Description Human
Similarity		 NCBI accessions
dog
(Canis familiaris)		 PORCN1   -- porcupine homolog (Drosophila) 94.8(n)
98.46(a)		 480903  XM_845918.1  XP_851011.1 
chimpanzee
(Pan troglodytes)		 PORCN1   -- porcupine homolog (Drosophila) 99.49(n)
100(a)		 465615  XM_521046.2  XP_521046.2 
cow
(Bos taurus)		 PORCN1   -- porcupine homolog (Drosophila) 94.14(n)
98.46(a)		 540373  XM_593608.3  XP_593608.1 
rat
(Rattus norvegicus)		 Porcn1   -- porcupine homolog (Drosophila) 93.26(n)
96.92(a)		 317368  XM_228781.4  XP_228781.3 
mouse
(Mus musculus)		 Porcn1, 5 X (2.15 cM)5
 porcupine homolog (Drosophila)1, 5 93.48(n)1
96.92(a)1		 536271  NM_023638.21  NP_076127.11 
 AB0367465  AB0367475  (see all 14)
About this table        Species with no ortholog for PORCN

ENSEMBL Gene Tree for PORCN

Paralogs
for PORCN

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

  --

SNPs/Variants
for PORCN

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/47 NCBI SNPs in PORCN are shown (see all 47 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 27)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr X posSequenceRecsAA
Chg		TypeMoreRecsAllele
freq		PopTotal
sample		More
------------
rs38106791,2
C48252685(+) GCCGCC/TGCATC 5 -- int1 ng510--------
rs38106781,2
C48252679(+) CCCCGC/TGCCGC 5 -- int1 ng510--------
rs38106771,2
H48252646(+) TGGGGG/AGCGCG 5 -- int1 ng511Minor allele frequency- A:0.00EU 120
rs350181401,2
F48255998(-) TAGGGG/ACCCAC 5 G/G syn11Minor allele frequency- A:0.06NA 68
rs342529751,2
F48259463(-) TGGTGC/TGAACA 5 S/S syn11Minor allele frequency- T:0.06NA 68
rs15468391,2
C,F,H,O48255417(+) GGTCCG/ATGTCT 5 -- int19Minor allele frequency- A:0.48MN EU EA WA 812
rs37473171,2
F,H48254986(-) CTCCAC/TGTCCT 5 -- int14Minor allele frequency- T:0.00EU EA WA 418
--
rs125575441,2
C48261083(+) gaggtA/Ggaggt 5 -- int10--------
rs117986091,2
H48259893(+) AAGTAT/GGGGGG 5 -- int14Minor allele frequency- G:0.00EU EA WA 416
rs59056961,2
H48255081(+) GGAGCC/GTGGGA 5 -- int14Minor allele frequency- G:0.00EU EA WA 416
About this table

HapMap Linkage Disequilibrium images for PORCN (up to first 250kb)

Disorders & Mutations
for PORCN

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

 OMIM: 300651   disorders: 305600  

UniProtKB/Swiss-Prot: PORCN_HUMAN, Q9H237

  • Defects in PORCN are a cause of focal dermal hypoplasia (FDH) [MIM:305600]; also known as
    Goltz syndrome. FDH is a X-linked dominant disorder characterized by defective development of
    ectodermal and mesodermal tissues. Often patients suffer from patchy hypoplastic skin and digital,
    ocular and dental malformations

    • GeneTests: PORCN

    Focal Dermal Hypoplasia

    Human Gene Mutation Database: PORCN

    Medical News
    for PORCN

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for PORCN

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    		10/15 PubMed articles for PORCN gene (see all 15 ):

    Search for PORCN

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Search String
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PORCN

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 64840 HGNC: 17652 AceView: PORCN Ensembl:ENSG00000102312 euGenes: HUgn64840
    ECgene: PORCN H-InvDB: PORCN

    Other Databases showing PORCN

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing PORCN

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=PORCN

    Licensable Technologies
    for PORCN

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for PORCN

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for PORCN:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
    		  Free SNP selection tool



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      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for PORCN-related products

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     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for PORCN Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for PORCN Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Search Novus for antibodies for PORCN

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